威廉姆斯综合征合并面部葡萄酒色斑和色素血管性斑痣性错构瘤病：一例报告
Williams Syndrome Associated With Facial Port-Wine Stain and Phacomatosis Pigmentovascularis: A Case Report.
作者信息
Abtahi-Naeini Bahareh, Yaghini Omid, Razavi Zahra
机构信息
Pediatric Dermatology Division of Department of Pediatrics, Imam Hossein Children's Hospital Isfahan University of Medical Sciences Isfahan Iran.
Skin Diseases and Leishmaniasis Research Center Isfahan University of Medical Sciences Isfahan Iran.
出版信息
Clin Case Rep. 2025 Sep 26;13(10):e70996. doi: 10.1002/ccr3.70996. eCollection 2025 Oct.
Abstract
Williams syndrome (WS) is a rare congenital multi-systemic condition due to gene deletion. We present a rare case of co-existence of WS, port wine stains, and phacomatosis pigmentovascularis. This case emphasizes the importance of recognizing the co-occurrence of such conditions and WS for accurate diagnosis and management.
摘要
威廉姆斯综合征（WS）是一种因基因缺失导致的罕见先天性多系统疾病。我们报告了一例罕见的同时患有威廉姆斯综合征、葡萄酒色斑和色素血管性斑痣性错构瘤病的病例。该病例强调了认识这些病症与威廉姆斯综合征同时出现对于准确诊断和治疗的重要性。
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Williams Syndrome Associated With Facial Port-Wine Stain and Phacomatosis Pigmentovascularis: A Case Report.威廉姆斯综合征合并面部葡萄酒色斑和色素血管性斑痣性错构瘤病：一例报告
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